A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971100



Internal ID48072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138186962..138195956hg38UCSC Ensembl
chr6:138508099..138517093hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg388995
hg198995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454548
Supporting Variants
Samples
Known GenesKIAA1244
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971100
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000625


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